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Table of contents

SNP Genotyping at HPCGG

Overview of SNP Genotyping at HPCGG

Pre-Design QC

Pre-design QC

SNP sequence and DNA Submission

PCR

Sequenom MassARRAY™ Genotyping

Sequenom MassARRAY™ Genotyping

Slide 9

Sequenom MassARRAY™ Genotyping System

MALDI-TOF MS (Matrix Assisted Laser Desorption/Ionization-Time Of Flight Mass Spectrometry)

SpectroAQUIRE

Multiplex Analysis – 6-plex

Assay Design and Replexing

Assay Design Failure

Assay Validation and Primary Analysis

Extra Peaks – triallelic SNP

Assay Stability

Heterozygote Peak Height Ratio

High amount of unextended probe

Production Genotyping

Secondary Analysis and QC

Secondary Analysis and QC

HPCGG Genotyping Facility

HPCGG Genotyping Facility

Slide 26

Author: Maura Regan

Homepage: https://innateimmunity.net/

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